Mutagenetix > Incidental Mutation

Incidental Mutation 'R4721:Or1j13'

354435

Institutional Source

Beutler Lab

Gene Symbol

Or1j13

Ensembl Gene

ENSMUSG00000075387

Gene Name

olfactory receptor family 1 subfamily J member 13

Synonyms

MOR136-2, GA_x6K02T2NLDC-33174915-33173974, Olfr341

MMRRC Submission

041986-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R4721 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36369199-36370140 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36369836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 102 (Y102C)

Ref Sequence

ENSEMBL: ENSMUSP00000150801 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100154] [ENSMUST00000213300]

AlphaFold

Q8VGK9

Predicted Effect

probably benign
Transcript: ENSMUST00000100154
AA Change: Y102C

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097731
Gene: ENSMUSG00000075387
AA Change: Y102C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.6e-59	PFAM
Pfam:7TM_GPCR_Srsx	35	305	4e-6	PFAM
Pfam:7tm_1	41	290	9.1e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213300
AA Change: Y102C

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.1995

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (90/92)

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,385,107 (GRCm39)	D286G	probably benign	Het
Abca15	G	A	7: 119,949,998 (GRCm39)	E491K	probably benign	Het
Acsl5	A	G	19: 55,268,962 (GRCm39)	T208A	probably benign	Het
Adamts10	T	A	17: 33,764,511 (GRCm39)		probably null	Het
Ahcyl1	T	C	3: 107,577,233 (GRCm39)	Q313R	possibly damaging	Het
Ccdc71	C	T	9: 108,340,622 (GRCm39)	S145L	possibly damaging	Het
Cep250	A	G	2: 155,812,119 (GRCm39)	T472A	probably damaging	Het
Copa	T	C	1: 171,931,841 (GRCm39)		probably benign	Het
Crybg1	C	A	10: 43,873,883 (GRCm39)	R1075L	probably damaging	Het
Ddr2	T	A	1: 169,832,809 (GRCm39)	K84*	probably null	Het
Ddx59	C	T	1: 136,344,844 (GRCm39)	P172S	probably benign	Het
Dhx34	T	A	7: 15,931,307 (GRCm39)	Q1118L	possibly damaging	Het
Dkkl1	T	A	7: 44,857,232 (GRCm39)	I112F	probably damaging	Het
Dnah8	T	A	17: 30,944,140 (GRCm39)	C1786S	probably damaging	Het
Eml6	T	A	11: 29,788,525 (GRCm39)	D520V	possibly damaging	Het
Ergic1	T	A	17: 26,857,750 (GRCm39)	V192E	probably damaging	Het
Fat3	T	C	9: 15,941,262 (GRCm39)	E1343G	probably damaging	Het
Fxr1	T	C	3: 34,118,381 (GRCm39)	S535P	possibly damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm15446	C	T	5: 110,090,866 (GRCm39)	H373Y	probably damaging	Het
Gpr157	A	T	4: 150,183,420 (GRCm39)	N197Y	probably benign	Het
Grid2	G	A	6: 64,643,185 (GRCm39)	M982I	probably benign	Het
Hey2	G	T	10: 30,710,304 (GRCm39)	R150S	possibly damaging	Het
Hmcn1	T	C	1: 150,648,322 (GRCm39)		probably null	Het
Ighv3-3	G	A	12: 114,160,156 (GRCm39)	R85*	probably null	Het
Ighv5-4	A	T	12: 113,561,060 (GRCm39)		probably benign	Het
Igsf21	A	G	4: 139,834,621 (GRCm39)	S84P	probably benign	Het
Kif20b	A	G	19: 34,915,773 (GRCm39)	T517A	probably benign	Het
Krt87	T	C	15: 101,385,863 (GRCm39)	E244G	probably damaging	Het
Lrp1	T	C	10: 127,390,928 (GRCm39)	T2990A	possibly damaging	Het
Lrp1b	T	A	2: 40,605,381 (GRCm39)		probably null	Het
Lrrc42	A	T	4: 107,091,050 (GRCm39)	S382T	probably benign	Het
Magi2	C	T	5: 20,739,467 (GRCm39)	R737W	probably damaging	Het
Mcc	A	G	18: 44,652,623 (GRCm39)	L267P	probably damaging	Het
Mzf1	T	A	7: 12,777,223 (GRCm39)	Q727L	possibly damaging	Het
Mzf1	C	T	7: 12,777,448 (GRCm39)	R652Q	possibly damaging	Het
Nkain3	C	T	4: 20,485,015 (GRCm39)	A21T	probably damaging	Het
Nlrp4e	T	A	7: 23,020,521 (GRCm39)	V336E	possibly damaging	Het
Nptn	C	T	9: 58,548,059 (GRCm39)	R155C	probably damaging	Het
Nr2c2	T	C	6: 92,116,828 (GRCm39)	I10T	possibly damaging	Het
Or12e13	T	A	2: 87,663,515 (GRCm39)	I44N	probably damaging	Het
Or1e26	C	T	11: 73,480,273 (GRCm39)	C97Y	probably damaging	Het
Pdzk1	G	T	3: 96,776,518 (GRCm39)	E493*	probably null	Het
Plekhh1	GTCAAA	G	12: 79,122,194 (GRCm39)		probably null	Het
Polr3b	T	C	10: 84,491,867 (GRCm39)	V342A	possibly damaging	Het
Prg3	T	C	2: 84,821,750 (GRCm39)	V125A	possibly damaging	Het
Raph1	G	A	1: 60,542,160 (GRCm39)		probably benign	Het
Rassf2	A	G	2: 131,846,358 (GRCm39)	V133A	probably benign	Het
Rbm22	G	A	18: 60,697,463 (GRCm39)	R56H	probably damaging	Het
Rbpjl	A	C	2: 164,246,447 (GRCm39)	S31R	probably benign	Het
Reln	A	G	5: 22,124,220 (GRCm39)	V2762A	probably damaging	Het
Rxrg	T	A	1: 167,452,621 (GRCm39)	I141N	probably damaging	Het
Scn7a	C	A	2: 66,514,529 (GRCm39)	G1082C	probably damaging	Het
Selenon	C	A	4: 134,270,387 (GRCm39)	E322*	probably null	Het
Sipa1	C	T	19: 5,710,413 (GRCm39)	R199Q	probably damaging	Het
Slc26a7	A	T	4: 14,510,261 (GRCm39)		probably null	Het
Slc37a4	T	C	9: 44,312,787 (GRCm39)	S314P	possibly damaging	Het
Smarce1	T	C	11: 99,111,543 (GRCm39)	I59V	probably benign	Het
Stk19	T	C	17: 35,042,120 (GRCm39)		probably null	Het
Susd2	C	T	10: 75,473,964 (GRCm39)	D544N	probably benign	Het
Tcf7l2	G	T	19: 55,919,886 (GRCm39)	R465L	possibly damaging	Het
Tfap2d	T	A	1: 19,174,984 (GRCm39)	S146T	possibly damaging	Het
Tmem156	A	G	5: 65,248,870 (GRCm39)	F10S	probably benign	Het
Tmem63c	G	T	12: 87,103,954 (GRCm39)	A68S	possibly damaging	Het
Tnfrsf21	T	C	17: 43,396,395 (GRCm39)	C560R	probably damaging	Het
Trav10n	C	T	14: 53,359,590 (GRCm39)	T7I	probably benign	Het
Ttc38	C	T	15: 85,722,947 (GRCm39)	R132W	probably benign	Het
Tvp23a	T	C	16: 10,245,275 (GRCm39)	K108R	probably benign	Het
Vmn1r233	T	C	17: 21,214,879 (GRCm39)	M24V	probably benign	Het
Vmn1r88	T	A	7: 12,912,451 (GRCm39)	L269*	probably null	Het
Vmn2r101	T	A	17: 19,832,287 (GRCm39)	M761K	probably damaging	Het
Vps13b	C	T	15: 35,910,864 (GRCm39)	Q3543*	probably null	Het
Wdr37	T	C	13: 8,904,065 (GRCm39)	E101G	possibly damaging	Het
Zc3hc1	A	G	6: 30,374,899 (GRCm39)	V214A	probably benign	Het
Zcchc9	A	T	13: 91,948,728 (GRCm39)		probably null	Het
Zdbf2	A	T	1: 63,347,951 (GRCm39)	Q2110L	possibly damaging	Het
Zfp516	T	G	18: 82,975,236 (GRCm39)	L478R	possibly damaging	Het

Other mutations in Or1j13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01455:Or1j13	APN	2	36,369,368 (GRCm39)	missense	probably damaging	1.00
IGL01469:Or1j13	APN	2	36,369,836 (GRCm39)	missense	probably benign	0.44
IGL02269:Or1j13	APN	2	36,369,579 (GRCm39)	missense	possibly damaging	0.86
IGL02870:Or1j13	APN	2	36,370,043 (GRCm39)	missense	probably benign
IGL03190:Or1j13	APN	2	36,369,734 (GRCm39)	missense	probably damaging	1.00
R0988:Or1j13	UTSW	2	36,369,779 (GRCm39)	missense	probably damaging	1.00
R1214:Or1j13	UTSW	2	36,369,981 (GRCm39)	missense	possibly damaging	0.67
R1785:Or1j13	UTSW	2	36,370,059 (GRCm39)	missense	possibly damaging	0.87
R1786:Or1j13	UTSW	2	36,370,059 (GRCm39)	missense	possibly damaging	0.87
R2130:Or1j13	UTSW	2	36,370,059 (GRCm39)	missense	possibly damaging	0.87
R2131:Or1j13	UTSW	2	36,370,059 (GRCm39)	missense	possibly damaging	0.87
R2132:Or1j13	UTSW	2	36,370,059 (GRCm39)	missense	possibly damaging	0.87
R2133:Or1j13	UTSW	2	36,370,059 (GRCm39)	missense	possibly damaging	0.87
R2568:Or1j13	UTSW	2	36,369,986 (GRCm39)	missense	probably damaging	1.00
R4115:Or1j13	UTSW	2	36,369,797 (GRCm39)	missense	probably damaging	1.00
R4384:Or1j13	UTSW	2	36,370,010 (GRCm39)	missense	probably damaging	1.00
R5375:Or1j13	UTSW	2	36,369,309 (GRCm39)	missense	probably damaging	0.98
R6035:Or1j13	UTSW	2	36,369,996 (GRCm39)	missense	probably damaging	1.00
R6035:Or1j13	UTSW	2	36,369,996 (GRCm39)	missense	probably damaging	1.00
R6084:Or1j13	UTSW	2	36,369,524 (GRCm39)	missense	probably benign	0.01
R6340:Or1j13	UTSW	2	36,370,032 (GRCm39)	missense	probably benign	0.31
R7238:Or1j13	UTSW	2	36,369,726 (GRCm39)	missense	possibly damaging	0.54
R7532:Or1j13	UTSW	2	36,370,138 (GRCm39)	start codon destroyed	probably null	0.27
R7830:Or1j13	UTSW	2	36,369,392 (GRCm39)	missense	probably damaging	1.00
R7910:Or1j13	UTSW	2	36,369,345 (GRCm39)	missense	probably damaging	0.98
R8737:Or1j13	UTSW	2	36,369,629 (GRCm39)	missense	probably benign	0.00
R8821:Or1j13	UTSW	2	36,369,794 (GRCm39)	missense	possibly damaging	0.94
R8831:Or1j13	UTSW	2	36,369,794 (GRCm39)	missense	possibly damaging	0.94
R8847:Or1j13	UTSW	2	36,369,483 (GRCm39)	nonsense	probably null
R9070:Or1j13	UTSW	2	36,369,268 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCGACAGGCTCAATAAGG -3'
(R):5'- GAACCTGCTCATCATCCTGC -3'

Sequencing Primer
(F):5'- TTTCTAAAATGAGATAGGCGAGCC -3'
(R):5'- TGCTCATCAGGCTGGACTC -3'

Posted On

2015-10-21